Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.110 None 1.000 0 2 2016 2016
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1 		spectrin repeat containing nuclear envelope protein 1 0.511 0.846 3.2E-52
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 2
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.120 None 1.000 0 1 1997 2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.110 None 1.000 4 4 2002 2016
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 2